| Genetic Anticipation in Korean Patients with Inflammatory Bowel Disease |
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Byoung Wook Lee, Hyo Jong Kim, Suk-Kyun Yang, Jong Beom Park, Yong Hee Jeong, Yo Seb Han, Won Gab Park , Seok Ho Dong , Byung Ho Kim, Young Woon Chang, Joung Il Lee, Rin Chang, Young Il Min |
1Department of Internal Medicine, Kyung Hee University College of Medicine; Department of Internal Medicine, University of Ulsan College of Medicine, Asan Medical Center
2Department of Internal Medicine, Song Do Hospital, Seoul, Korea
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| 한국인 가족성 염증성 장질환에서 유전학적 예기(Genetic Anticipation)에 대한 연구 |
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이병욱, 김효종, 양석균, 박종범, 정용희, 한요셉, 박원갑, 동석호, 김병호, 장영운, 이정일, 장린, 민영일 |
1경희대학교 의과대학 내과학교실, 울산대학교 의과대학 서울아산병원 내과학교실
2송도병원 내과 |
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| Abstract |
Background/Aims
Several recent epidemiologic studies in familial inflammatory bowel disease (IBD) reported preliminary evidences for genetic anticipation in IBD. However, presence of genetic anticipation in IBD has been questioned. We studied pairs of two-generation first-degree relatives with IBD to identify evidence for genetic anticipation in Korean patients with familial IBD and to know the influence of gender of transmitting parent on anticipation in IBD. Methods: Through retrospective review of the records of 11 parent-child pairs with IBD, we compared age at diagnosis (AAD) and severity of disease between generations and investigate difference in the degree of anticipation with respect to gender of transmitting parent. Results: At the time of study enrollment, the mean age of parents was 56.2 years and 29.1 years in children. Diagnostic intervals (time from first symptoms to diagnosis) between generations were similar (p=0.307). The mean AAD was 21.7 years younger in children than in parents (p<0.001). But, the degree of anticipation was not different according to gender of transmitting parents (p=0.369). Also, severities of disease were not significantly different between generations. Conclusions: Genetic anticipation may exist in Korean patients with familial IBD but, further studies with larger cohorts and sufficient observation time is warranted to rule out the effect of short follow-up time bias. (Intestinal Research 2003;1:31-38) |
| Key Words:
Anticipation, Genetic, Inflammatory bowel diseases |
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